Fetal anomalies
Gene: ACTA2

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 15 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.

More than 40 unrelated individuals reported, missense at p.Arg179 position.
Created: 25 Oct 2021, 5:51 a.m. | Last Modified: 25 Oct 2021, 5:51 a.m.

Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multisystemic smooth muscle dysfunction syndrome - MIM# 613834

Publications

Created: 25 Oct 2021, 4:52 a.m.
Last Modified: 25 Oct 2021, 4:52 a.m.
Panel version: 0.22

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Multisystemic smooth muscle dysfunction syndrome - MIM# 613834

OMIM

102620

Clinvar variants

Variants in ACTA2

Penetrance

None

Publications

Panels with this gene